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Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 | SNORA31 | Eleanor Williams Tag gene-checked tag was added to gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | SNORA31 | Arina Puzriakova Tag for-review was removed from gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | SNORA31 | Arina Puzriakova commented on gene: SNORA31: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | SNORA31 |
Arina Puzriakova Source Expert Review Green was added to SNORA31. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 | SNORA31 | Arina Puzriakova Classified gene: SNORA31 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 | SNORA31 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 | SNORA31 | Arina Puzriakova Gene: snora31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.367 | SNORA31 | Arina Puzriakova Tag for-review tag was added to gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 | SNORA31 | Catherine Snow Classified gene: SNORA31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 | SNORA31 | Catherine Snow Added comment: Comment on list classification: Rating as Green following external review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.47 | SNORA31 | Catherine Snow Gene: snora31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Classified gene: SNORA31 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Added comment: Comment on list classification: New gene added for review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.9 | SNORA31 | Louise Daugherty Gene: snora31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SNORA31 | Louise Daugherty reviewed gene: SNORA31: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 | SNORA31 |
Owen Siggs gene: SNORA31 was added gene: SNORA31 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNORA31 were set to 31806906 Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis Review for gene: SNORA31 was set to GREEN Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene. Sources: Literature |